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Article

The identification of two pathogenic variants in a family with mild and severe forms of developmental delay.

Journal of human genetics - 1 Apr 2021

Miyake Noriko, Heydari Shermineh, Garshasbi Masoud, Saitoh Shinji, Nasiri Jafar, Hamanaka Kohei, Takata Atsushi, Matsumoto Naomichi, Beheshti Farnaz Hosseini, Chaleshtori Ahmad Reza Salehi

Abstract excerpt

Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The genetic components responsible for the development of ID are highly heterogeneous, and the phenotype and severity of the disease vary in patients even if they have an identical pathological variant and/or belong to the same family. Herein, we reported two...

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PMID: 33037390
DOI: 10.1038/s10038-020-0809-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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